About

Established in fall 2025, the Institute for Rare Diseases bridges the gap between scientific discovery and the lived experiences of individuals and families affected by rare diseases. Aligned with the University of Notre Dame’s Catholic mission and strategic framework, the Institute brings together faculty across bioengineering, the life sciences, neuroscience, and patient-focused disciplines to accelerate meaningful advances in care.

Our Mission

The Institute aims to be a beacon of hope for the rare disease community — revolutionizing care by uniting patients, scientists, clinicians, and advocacy leaders to accelerate therapy development, empower organizations, and train the next generation of patient-centered advocates.

What Is a Rare Disease?

In the United States, a rare disease — sometimes called an orphan disease — affects fewer than 200,000 people. Although each condition impacts a small population, more than 8,000 rare diseases exist, affecting 1 in 10 Americans and creating enormous unmet medical needs worldwide.

Notre Dame researchers are committed to advancing laboratory discoveries into potential treatments for these underserved communities.

History of Rare Disease Research at Notre Dame

Notre Dame’s rare disease efforts span more than two decades. What began as individual research initiatives in chemistry, biochemistry, and biology grew into a formal effort in 2001 with the submission of the University’s first charter for a rare disease center.

A transformative milestone came in 2009 with a generous gift from the Parsons Quinn family, enabling the hiring of the inaugural Director of the Center for Rare Diseases. The establishment of the Boler-Parseghian Center in 2014 — supported by the Boler, Parseghian, and Monahan families — marked a major expansion in Notre Dame’s capabilities, allowing the recruitment of multiple faculty dedicated to rare disease research.

In 2016, the Ara Parseghian Medical Research Fund (APMRF) was established at Notre Dame, carrying forward the work of the Ara Parseghian Medical Research Foundation and intensifying the University’s commitment to finding a cure for Niemann-Pick Type C (NPC). Today, APMRF is the world’s largest funder of NPC research.

In 2021, the College of Science launched the groundbreaking undergraduate minor in Science and Patient Advocacy, directed by Barbara Calhoun, MSN, RN, PNP — the first program of its kind globally. Building on its momentum, the Patient Advocacy Initiative was established in 2022 with support from David and Cathleen Reisenauer, Dyne Therapeutics, and Horizon Therapeutics (now Amgen), creating a model for academic advocacy training.

Today, Notre Dame’s rare disease enterprise includes more than 20 faculty studying over 10 rare diseases, fostering global collaborations and training students and advocates poised to improve the lives of patients and families around the world.